BIOINFORMATICS CORE The broad goal of the Bioinformatics Core is to support development of novel mouse models in The Jackson Laboratory (JAX) Center for Precision Genetics (JCPG) with portal that supports the activities of the Center with simplified access to tools, resources and expertise, and deploys data driven strategies that integrate genetic, genomic and phenotypic information across humans and mice. The development of disease models has been hampered by simplifying assumptions regarding disease variant identification, phenotype annotation and model development. Unfortunately, the early notion held by human and mouse geneticists that a defect in a single gene would equate to a single disease has proven wrong and it is now clear that human disease is much more complex. Progress depends on making animal models that reflect this complexity. The JCPG Bioinformatics Core will develop, implement, disseminate, apply and validate data-driven approaches to the refinement of mouse models through the computational integration of genetic and phenotypic heterogeneity. This work harnesses and integrates a suite of tools and data resources available at The Jackson Laboratory and beyond, including GeneWeaver, Mouse Phenome Database, Human Phenotype Ontology and Monarch Initiative, and multiple resources from the Mouse Genome Database and Alliance for Genome Resources. The practical goal of the Core is to establish the workflows, implement software enhancements and a publicly accessible portal that provide a seamless user experience for the identification, design and evaluation of mouse models appropriate for a given disease. To achieve this our work will pursue the following three Aims, each designed to develop specific tools or services:
Aim 1. We will develop a suite of services for the analytic integration of human and mouse genetic, genomic and phenomic data to identify and prioritize features for enhanced precision disease models.
Aim 2. We will provide an integrated study intake and management system with data quality control, analytics and dissemination tools that interoperates with our knowledge graph and catalogue.
Aim 3. We will develop an external end-user facing portal for access to guided workflows, data and model and model organisms, project tracking and access to integrated resources.
